Annotation Detail
Information
- Associated Genes
- NPM1
- Associated Variants
-
NPM1 EXON 12 MUTATION
NPM1 EXON 12 MUTATION - Associated Disease
- acute myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- AML with mutated NPM1 is a provisional entity in the World Health Organization (WHO) classification of acute myeloid leukemia (AML). This mutation should be tested for in clinical trials and is recommended for testing in patients with cytogentically normal AML.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/116
- Gene URL
- https://civic.genome.wustl.edu/links/genes/35
- Variant URL
- https://civic.genome.wustl.edu/links/variants/86
- Rating
- 5
- Evidence Type
- Diagnostic
- Disease
- Acute Myeloid Leukemia
- Evidence Direction
- Supports
- Evidence Level
- A
- Clinical Significance
- Positive
- Pubmed
- 19357394
Drugs